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Article

Interleukin-2 receptor gamma-chain mutations in severe combined immunodeficiency with B-lymphocytes.

European journal of pediatrics - 1 Dec 1996

Tsuge I, Matsuoka H, Abe T, Kamachi Y, Torii S

Abstract excerpt

UNLABELLED: Severe combined immunodeficiency (SCID) with a normal number of B-lymphocytes usually demonstrates an X-linked inheritance and now is regarded as an interleukin-2-receptor (IL-2R) gamma-chain gene defect. Here, we report the characterization of mutations in the IL-2R gamma-chain gene of six unrelated SCID patients. One large deletion, one short deletion, one nonsense mutation and three single missense...

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Identifiers

PMID: 8956936
DOI: 10.1007/BF02532522

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PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026. Manifest publication-graph-cohort-2026-09-08.1.

Source receipt: pubmed, retrieved 7 Sept 2026.

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Interleukin-2 receptor gamma-chain mutations in severe combined immunodeficiency with B-lymphocytes.PMID 8956936Read ↗

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